title: [Polymorphic Alu insertions and their associations with HLA I alleles in Yugu and Zhuang ethnic populations].
abstract: Many studies have show that the structurally polymorphic Alu insertion within HLA class I region are useful tools for investigating the origin, evolution and recombination of HLA class I progenitor haplotypes and gene diversity in different ethnic populations. In the present study, we determined the frequencies of HLA-Alus (i.e., AluMICB, AluTF, AluHJ, AluHG, and AluHF) in Zhuang and Yugu ethnic populations at first. Then, combined with HLA genotyping data, we studied associations between HLA-Alus and HLA-A alleles in Zhuang, Yugu, Bulang, Dai, and Hani ethnic populations. Our results showed that (1) the frequencies of five HLA-Alus were 1.5%~35.8% and 9.2%~34.8% in Zhuang and Yugu, respectively; and (2) the results of association between HLA-A alleles and HLA-Alu showed strong association between AluHG insertion and HLA-A 02 subtypes in all populations, association between AluHJ insertion and HLA-A 2402 in all populations, and association between AluHJ insertion and HLA-A 1101, -A 2407 in Bulang. The present study suggested that the distribution of HLA-Alus as well as the associations between HLA-Alus and HLA class I alleles are variable in different ethnic populations. HLA Alus alone or together with the HLA class I alleles are informative genetic markers for the identification of HLA class I allele and variation of haplotype lineages in different populations.
authors.affiliation: Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences & Peking Union Medical College, Kunming 650118, China. shilei33@sina.com
authors.forename: Lei
authors.initials: L
authors.lastname: Shi
authors.forename: Yu-Feng
authors.initials: YF
authors.lastname: Yao
authors.forename: Li
authors.initials: L
authors.lastname: Shi
authors.forename: Yu-Fen
authors.initials: YF
authors.lastname: Tao
authors.forename: Liang
authors.initials: L
authors.lastname: Yu
authors.forename: Xiao-Qin
authors.initials: XQ
authors.lastname: Huang
authors.forename: Ke-Qin
authors.initials: KQ
authors.lastname: Lin
authors.forename: Wen
authors.initials: W
authors.lastname: Yi
authors.forename: Hao
authors.initials: H
authors.lastname: Sun
authors.forename: Zhao-Qing
authors.initials: ZQ
authors.lastname: Yang
authors.forename: Jia-You
authors.initials: JY
authors.lastname: Chu
mesh_terms: D020087:Alu Elements; D044466:Asian People / Q000208:ethnology* / Q000235:genetics*; D002681:China / Q000208:ethnology; D005787:Gene Frequency; D014644:Genetic Variation; D005828:Genetics, Population; D015234:HLA-A Antigens / Q000235:genetics*; D006801:Humans; D016254:Mutagenesis, Insertional; D011110:Polymorphism, Genetic
chemical_list: D015234:HLA-A Antigens